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Functional testing of thousands of osteoarthritis-associated variants for regulatory activity

Nature communications, 2019-06, Vol.10 (1), p.2434-2434, Article 2434

2019

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Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk

Arthritis research & therapy, 2022-08, Vol.24 (1), p.1-189, Article 189

2022

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Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues

Arthritis research & therapy, 2023-05, Vol.25 (1), p.83-83, Article 83

2023

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ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

American journal of human genetics, 2018-10, Vol.103 (4), p.612-620

2018

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Specific isoforms of the ubiquitin ligase gene WWP2 are targets of osteoarthritis genetic risk via a differentially methylated DNA sequence

Arthritis research & therapy, 2024-04, Vol.26 (1), p.78-78, Article 78

2024

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Interplay between genetics and epigenetics in osteoarthritis

Nature reviews. Rheumatology, 2020-05, Vol.16 (5), p.268-281

2020

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Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure

Frontiers in genetics, 2021-11, Vol.12, p.791495

2021

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Esomeprazole Increases Airway Surface Liquid pH in Primary Cystic Fibrosis Epithelial Cells

Frontiers in pharmacology, 2018-12, Vol.9, p.1462-1462

2018

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Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk–Conferring Alleles on a Shared Target Gene, COLGALT2

Arthritis & rheumatology (Hoboken, N.J.), 2023-06, Vol.75 (6), p.910-922

2023

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Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis

Arthritis & rheumatology (Hoboken, N.J.), 2021-10, Vol.73 (10), p.1856-1865

2021

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Genetic and Epigenetic Fine‐Tuning of TGFB1 Expression Within the Human Osteoarthritic Joint

Arthritis & rheumatology (Hoboken, N.J.), 2021-10, Vol.73 (10), p.1866-1877

2021

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Osteoarthritis as an Enhanceropathy: Gene Regulation in Complex Musculoskeletal Disease

Current rheumatology reports, 2024-06, Vol.26 (6), p.222-234

2024

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Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis

Journal of the American Society of Nephrology, 2015-03, Vol.26 (3), p.543-551

2015

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Multi‐Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis Susceptibility

Arthritis & rheumatology (Hoboken, N.J.), 2021-01, Vol.73 (1), p.100-109

2021

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Genetic risk of osteoarthritis operates during human skeletogenesis

Human molecular genetics, 2023-06, Vol.32 (13), p.2124-2138

2023

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Prioritization of PLEC and GRINA as Osteoarthritis Risk Genes Through the Identification and Characterization of Novel Methylation Quantitative Trait Loci

Arthritis & rheumatology (Hoboken, N.J.), 2019-08, Vol.71 (8), p.1285-1296

2019

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Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk

Human molecular genetics, 2018-10, Vol.27 (19), p.3464-3474

2018

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Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene

Annals of the rheumatic diseases, 2021-03, Vol.80 (3), p.367-375

2021

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Three decades of advancements in osteoarthritis research: insights from transcriptomic, proteomic, and metabolomic studies

Osteoarthritis and cartilage, 2024-04, Vol.32 (4), p.385-397

2024

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Evolution and advancements in genomics and epigenomics in OA research: How far we have come

Osteoarthritis and cartilage, 2024-07, Vol.32 (7), p.858-868

2024

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SERPINA3 is a marker of cartilage differentiation and is essential for the expression of extracellular matrix genes during early chondrogenesis

Matrix biology, 2024-11, Vol.133, p.33-42

2024

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Clinical and genetic analysis of patients with cystinuria in the United Kingdom

Clinical journal of the American Society of Nephrology, 2015-07, Vol.10 (7), p.1235-1245

2015

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Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families

Pediatric nephrology (Berlin, West), 2019-09, Vol.34 (9), p.1615-1623

2019

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Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations

Physiological reports, 2018-06, Vol.6 (12), p.e13715-n/a

2018

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Functional testing of thousands of osteoarthritis-associated variants for regulatory activity

Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk

Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

Specific isoforms of the ubiquitin ligase gene WWP2 are targets of osteoarthritis genetic risk via a differentially methylated DNA sequence

Interplay between genetics and epigenetics in osteoarthritis

Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure

Esomeprazole Increases Airway Surface Liquid pH in Primary Cystic Fibrosis Epithelial Cells

Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk–Conferring Alleles on a Shared Target Gene, COLGALT2

Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis

Genetic and Epigenetic Fine‐Tuning of TGFB1 Expression Within the Human Osteoarthritic Joint

Osteoarthritis as an Enhanceropathy: Gene Regulation in Complex Musculoskeletal Disease

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis

Multi‐Tissue Epigenetic and Gene Expression Analysis Combined With Epigenome Modulation Identifies RWDD2B as a Target of Osteoarthritis Susceptibility

Genetic risk of osteoarthritis operates during human skeletogenesis

Prioritization of PLEC and GRINA as Osteoarthritis Risk Genes Through the Identification and Characterization of Novel Methylation Quantitative Trait Loci

Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk

Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify WNT9A as novel osteoarthritis gene

Three decades of advancements in osteoarthritis research: insights from transcriptomic, proteomic, and metabolomic studies

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

Evolution and advancements in genomics and epigenomics in OA research: How far we have come

SERPINA3 is a marker of cartilage differentiation and is essential for the expression of extracellular matrix genes during early chondrogenesis

Clinical and genetic analysis of patients with cystinuria in the United Kingdom

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations

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